A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect

Abstract

Autoimmune polyendocrine syndrome type 1 (APS 1) is a rare autosomal recessive disorder that is characterized by autoimmunity against endocrine and ectodermal tissues. Clinical manifestations usually appear in childhood and consist of hypoparathyroidism, oral candidiasis, and adrenocortical insufficiency. Ocular complications include keratoconjunctivitis, dry eye, iridocyclitis, cataract, retinitis pigmentosa, and optic atrophy. We report a 9-year-old girl with APS 1 who had polar cataract in her left eye (LE), retinal changes with retinal pigment atrophy, and a new autoimmune regulator (AIRE) gene defect on chromosome 21. When a pediatric patient presents with decreased visual acuity with a history of chronic mucocutaneous candidiasis, ectodermal dysplasias, or hypoparathyroidism, we should consider the diagnosis of APS type 1 and arrange a pediatric endocrinological evaluation. The gene studied in this case may contribute to the characterization of the molecular pathology of the AIRE gene and may allow preclinical diagnosis in families at risk.

Keywords

• AIRE gene mutation
• autoimmune polyendocrine syndrome
• cataract